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Familial Dyskeratotic Comedones.

Neel Prabha1, Namrata Chhabra2, Sandeep Kulkarni2

  • 1From the Departments of Dermatology, Venereology and Leprology and Pathology, All India Institute of Medical Sciences, Raipur, Chhattisgarh, India; ripuneel@gmail.com.

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This case report details a 21-year-old man with a 7-year history of widespread comedones and inflammatory papulonodules. Histopathology revealed characteristic follicular plugging and dyskeratosis, suggesting a rare keratinization disorder.

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Area of Science:

  • Dermatology
  • Histopathology
  • Genetics

Background:

  • A rare genetic disorder characterized by follicular hyperkeratosis and dyskeratosis.
  • Understanding the clinical spectrum and histopathological features is crucial for diagnosis.

Observation:

  • A 21-year-old male presented with a 7-year history of asymptomatic comedones and inflammatory papulonodules.
  • Lesions were widespread, affecting the trunk, face, arms, axillae, thighs, groin, and buttocks.
  • Physical examination revealed monomorphic black papules with central keratotic plugs and some inflamed nodules, along with pocklike scars.

Findings:

  • Skin biopsy of hyperkeratotic lesions showed crater-like invaginations filled with lamellar keratinous material and foci of dyskeratosis.
  • The patient's father had similar lesions, suggesting a hereditary component.

Implications:

  • This case highlights a rare follicular keratosis with potential genetic underpinnings.
  • Accurate histopathological diagnosis is essential for differentiating from common acneiform eruptions.
  • Further research may elucidate the specific genetic mutations and pathogenic mechanisms involved.